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Genetic Susceptibility Studies - Landmark Studies

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The contents of this section were published in 2003 as part of SEER's 30th Anniversary celebration.

The recent identification of genes associated with susceptibility to breast, colon, or other cancers highlights the importance of identifying families with hereditary patterns of cancer. Familial cancer registries are an important tool enabling researchers to identify genetic and environmental changes that modify cancer risk and apply the resulting knowledge to cancer prevention and control. The Breast and Colon Cancer Family Registries were established in 1997 as an international consortium to provide a research infrastructure for genetic and epidemiologic studies of these and related cancers, including characterization of already known genes and identification of new genes. The twelve participating institutions collect and maintain detailed information about cancer risk factors and molecular and clinical information from nearly 15,000 families and more than 6,000 population controls. A repository of blood and tissue samples from family members also has been established for research purposes. The SEER registry infrastructure has been critical both to the recruitment of these families and to the retrieval of related cancer data. Various interdisciplinary studies is underway, the results of which ultimately will be applied to the design of targeted preventive and therapeutic interventions.

The Women's Environment, Cancer, and Radiation Epidemiology (WECARE) Study is a multicenter, population-based study of women with breast cancer that is investigating gene-environment interactions that may influence susceptibility to this disease. The study has established a repository of epidemiologic risk factor information and biologic specimens from 2,100 women drawn from five population-based tumor registries in the United States and Europe. Beyond the major research questions that are the focus of these registries, issues such as informed consent and standardization of methods critical to conducting studies that use families across multiple centers also are being addressed. In addition, researchers are being afforded the opportunity to examine questions that surround the validity of family history data and optimal designs for estimating the frequency of mutations of disease-susceptibility genes.

Selected References

Lindor NM, Burgart LJ, Leontovich O, Goldberg RM, Cunningham JM, Sargent DJ, Walsh-Vockley C, Petersen GM, Walsh MD, Leggett BA, Young JP, Barker MA, Jass JR, Hopper J, Gallinger S, Bapat B, Redston M, Thibodeau SN. Immunohistochemistry versus microsatellite instability testing in phenotyping colorectal tumors. J Clin Oncol 2002;20(4):1043-1048.

Bernstein JL, Teraoka S, Haile RW, Borresen-Dale AL, Rosenstein BS, Gatti RA, Diep AT, Jansen L, Atencio DP, Olsen JH, Bernstein L, Teitelbaum SL, Thompson WD, Concannon P, WECARE Study Collaborative Group. Designing and implementing quality control for multi-center screening of mutations in the ATM gene among women with breast cancer. Hum Mutat 2003;21(5):542-550.

Gong G, Whittemore AS. Optimal designs for estimating penetrance of rare mutations of a disease-susceptibility gene. Genet Epidemiol 2003;24(3):173-180.

Kakar S, Burgart LJ, Thibodeau SN, Rabe KG, Peterson GM, Goldberg RM, Lindor NM. Frequency of loss of hMLH1 expression in colorectal cancer increases with advancing age. Cancer 2003;97(6):1421-1427.

Ziogas A, Anton-Culver H. Validation of family history data in cancer family registries. Am J Prev Med 2003;24(2):190-198.

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